Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis

2012 ◽  
Vol 94 (4) ◽  
pp. 245-248 ◽  
Author(s):  
Stavros Sifakis ◽  
Katherine Anagnostopoulou ◽  
Konstantina Plastira ◽  
Nikolaos Vrachnis ◽  
Anastasia Konstantinidou ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Rare Case ◽  
Trisomy 13

scholarly journals Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Yunsheng Ge ◽  
Jia Li ◽  
Jianlong Zhuang ◽  
Jian Zhang ◽  
Yanru Huang ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Copy Number ◽  
Prenatal Testing ◽  
Copy Number Variations ◽  
Trisomy 13 ◽  
Noninvasive Prenatal Testing ◽  
Predictive Values ◽  
Parental Willingness

Abstract Background Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs). This study was performed to investigate the performance of expanded noninvasive prenatal testing (expanded NIPT) in screening for common trisomies, sex chromosomal aneuploidies (SCAs), rare autosomal aneuploidies (RATs), and copy number variations (CNVs) and parental willingness for invasive prenatal diagnosis in a Chinese prenatal diagnosis center. Methods A total of 24,702 pregnant women were retrospectively analyzed at the Women and Children’s Hospital from January 2013 to April 2019, among which expanded NIPT had been successfully conducted in 24,702 pregnant women. The high-risk expanded NIPT results were validated by karyotype analysis and chromosomal microarray analysis. All the tested pregnant women were followed up for pregnancy outcomes. Results Of the 24,702 cases, successful follow-up was conducted in 98.77% (401/446) of cases with common trisomies and SCAs, 91.95% (80/87) of RAT and CNV cases, and 76.25% (18,429/24,169) of cases with low-risk screening results. The sensitivity of expanded NIPT was 100% (95% confidence interval[CI], 97.38–100%), 96.67%(95%CI, 82.78–99.92%), and 100%(95%CI, 66.37–100.00%), and the specificity was 99.92%(95%CI, 99.87–99.96%), 99.96%(95%CI, 99.91–99.98%), and 99.88% (95%CI, 99.82–99.93%) for the detection of trisomies 21, 18, and 13, respectively. Expanded NIPT detected 45,X, 47,XXX, 47,XXY, XYY syndrome, RATs, and CNVs with positive predictive values of 25.49%, 75%, 94.12%, 76.19%, 6.45%, and 50%, respectively. The women carrying fetuses with Trisomy 21/Trisomy 18/Trisomy 13 underwent invasive prenatal diagnosis and terminated their pregnancies at higher rates than those at high risk for SCAs, RATs, and CNVs. Conclusions Our study demonstrates that the expanded NIPT detects fetal trisomies 21, 18, and 13 with high sensitivity and specificity. The accuracy of detecting SCAs, RATs, and CNVs is still relatively poor and needs to be improved. With a high-risk expanded NIPT result, the women at high risk for common trisomies are more likely to undergo invasive prenatal diagnosis procedures and terminate their pregnancies than those with unusual chromosome abnormalities.

scholarly journals VP52.06: Prenatal diagnosis of the rare case of diphallia in association with bladder exstrophy

2021 ◽  
Vol 58 (S1) ◽  
pp. 308-308
Author(s):  
H. Vafaei ◽  
S. Roozmeh ◽  
A. Bahador ◽  
M. Zare Khafri ◽  
M. Ghiasi ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Rare Case ◽  
Bladder Exstrophy

scholarly journals A Case of BeckwithWiedemann Syndrome with Polyhydramnios

2017 ◽  
pp. 185
Author(s):  
Yusrawati Yusrawati ◽  
Reno Muhatiah
Keyword(s):  
Birth Weight ◽  
Prenatal Diagnosis ◽  
Caesarean Section ◽  
Apgar Score ◽  
Rare Case ◽  
Obstet Gynecol ◽  
Fetal Distress ◽  
Polycystic Kidney ◽  
Prenatal Diagnostic ◽  
Female Baby

Objective: To report a rare case of Beckwith-Wiedemann Syndrome with polyhydramnios. Methods: Reporting a case of Beckwith-Wiedemann syndrome with polyhydramnios. Results: Case of Mrs. Y, 27 years old woman, G2P1A0L1 preterm pregnancy (30-31 weeks) with polyhidramnios. From ultrasound found renomegaly, bilateral hyperechogenic polycystic kidney, and the karyotype result was 46,XX. Caesarean section was performed due to fetal distress. A female baby was born by caesarean section with birth weight of 1300 grams, 37 centimeters of body length, and APGAR score of 6/8. The congenital anomalies found were hepatomegaly, renomegaly, bilateral hyperechogenic renal polycystic, low set ears. The baby was died in NICU on day care 5th, with suspected of sepsis. Conclusion: Prenatal diagnosis of Beckwith-Wiedemann syndrome on fetus with polyhydramnios. [Indones J Obstet Gynecol 2017; 5-3: 185-188] Keywords: amniocentesis, beckwith-wiedemann syndrome, polyhydramnios, prenatal diagnostic, USG

Prenatal diagnosis of a huge facial tumor: Report of a rare case and literature review

2012 ◽  
Vol 52 (2) ◽  
pp. 111-114 ◽  
Author(s):  
Zeki Sahinoglu ◽  
Arif Aktug Ertekin ◽  
Aysenur Cerrah Celayir ◽  
Berrin Gucluer
Keyword(s):  
Prenatal Diagnosis ◽  
Literature Review ◽  
Rare Case

Prenatal Diagnosis of Trisomy 13

2006 ◽  
Vol 25 (4) ◽  
pp. 429-435 ◽  
Author(s):  
Csaba Papp ◽  
Artur Beke ◽  
Zoltan Ban ◽  
Zsanett Szigeti ◽  
Erno Toth-Pal ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 13

Using Patient-Centered Care After a Prenatal Diagnosis of Trisomy 18 or Trisomy 13

2017 ◽  
Vol 171 (4) ◽  
pp. 382 ◽  
Author(s):  
Shelly Haug ◽  
Mitchell Goldstein ◽  
Denise Cummins ◽  
Elba Fayard ◽  
T. Allen Merritt
Keyword(s):  
Prenatal Diagnosis ◽  
Patient Centered Care ◽  
Trisomy 18 ◽  
Trisomy 13 ◽  
Patient Centered ◽  
Centered Care

scholarly journals Prenatal diagnosis of low-level mosaicism for trisomy 13 at amniocentesis associated with a favorable outcome

2017 ◽  
Vol 56 (6) ◽  
pp. 840-842 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
Shin-Wen Chen ◽  
Shih-Ting Lai ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 13 ◽  
Favorable Outcome ◽  
Low Level

scholarly journals Simultaneous Detection of Trisomies 13, 18, and 21 with Multiplex Ligation-Dependent Probe Amplification–Based Real-Time PCR

2010 ◽  
Vol 56 (9) ◽  
pp. 1451-1459 ◽  
Author(s):  
Qiwei Guo ◽  
Yulin Zhou ◽  
Xiaobo Wang ◽  
Qingge Li
Keyword(s):  
Prenatal Diagnosis ◽  
Real Time ◽  
Real Time Pcr ◽  
Karyotype Analysis ◽  
Simultaneous Detection ◽  
Maternal Blood ◽  
Trisomy 13 ◽  
Clinical Samples ◽  
Dependent Probe ◽  
Single Reaction

BACKGROUND Trisomies 13, 18, and 21 account for the majority of chromosomal aneuploidies detected in prenatal diagnosis. Diagnosis of these trisomies relies mainly on karyotype analysis. Several molecular methods have been developed for trisomy detection, but performance or throughput limitations of these methods currently constrain their use in routine testing. METHODS We developed multiplex ligation-dependent probe amplification–based real-time PCR (MLPA/rtPCR) to simultaneously detect these 3 trisomy conditions with a single reaction. We applied the method to DNA isolated from 144 blinded clinical samples that included 32 cases of trisomy 21, 11 cases of trisomy 18, 1 case of trisomy 13, and 100 unaffected control samples; results were compared with karyotype analysis. RESULTS As judged by the results of the karyotype analysis, MLPA/rtPCR correctly detected all 44 cases of trisomy in the analysis of the blinded clinical samples. The method was able to detect a change in chromosome dosage as low as 1.2-fold. CONCLUSIONS This novel PCR-based technology simultaneously identified 3 types of trisomy in a single reaction and accurately detected trisomy with mosaicism, while reducing assay times and costs compared with conventional methods. The MLPA/rtPCR approach may have applicability in noninvasive prenatal diagnosis with maternal blood samples.

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